Genetic Profiling in Disaster Victim Identification

Abstract

About 30 years ago, Professor Sir Alec Jeffreys described the first deoxyribonucleic acid (DNA)‐profiling technique, and genetic profiling was soon implemented for immigration cases, paternity investigations and crime casework. Today, the methods have evolved from the original ‘DNA fingerprints’, to ‘DNA profiling’, which have been adopted as a standard procedure for human identification. New technological innovations, such as next‐generation sequencing, continue to improve the methods to be more efficient, such as throughput. In the disaster victim identification (DVI) context, DNA profiling is one of the primary tools in the aftermath of massive catastrophes and an important part in the process in repatriation of victims to their relatives. The first time DNA profiling was effectively used in a DVI process, was in 1990 in the identification of the victims of the fire on the Norwegian ferry ‘Scandinavian Star’. Since then, DNA profiling has been a mainstay in DVI work, and in some situations the method has proven to be the only doable method for victim identification.

Key Concepts:

  • Genetic profiling is a primary tool for identification of disaster victims.

  • A common ante‐mortem (AM) sample is often samples collected from a close relative(s) of the missing person.

  • Postmortem (PM) samples are appropriate tissue samples collected from the dead body or body part.

  • Potential contamination should be minimised during all processes.

  • AM samples and PM samples are analysed with the same genetic markers.

  • STR markers are at present the most widely used markers for genetic profiling for DVI.

  • A Bayesian approach regarding statistics (use of prior odds combined with genetic data) when evaluating associations between AM and PM genetic data, allows for an assessment of the strength of the alleged relationship in the identification process.

Keywords: disaster victim identification; genetic profiling; FTA‐cards; next‐generation sequencing; short tandem repeats; single nucleotide polymorphism; autosomal markers; Y‐chromosomal markers; X‐chromosomal markers; mitochondrial mtDNA‐markers; ante‐mortem samples; postmortem samples

Figure 1.

The picture shows a FTA‐card indicating a change in colour where the buccal cells are applicated. The two punches are samples extracted from the card for further analysis.

Figure 2.

Shows screen with an ongoing analysis of DNA profiles from 15 individual samples and one reference sample.

Figure 3.

Two principles of NGS. (a) Fragments of a shot‐gun library are ligated to adaptors and amplified together with microscopic beads prepared with an adaptor sequence. A low template emulsion will result in many beads with a single DNA molecule on each bead as template and amplicons will show in a monoclonal fashion. (b) DNA fragments of a library and with adaptors are ligated to a solid substrate at the 5′ end. Adaptors on the solid substrate will attract the 3′ end of the fragments to amplify products as bridges. Adjacent adaptors will attract to multiply fragments in a mono‐clonal way. Adapted from Shendure and Hanlee (). © Nature Publishing Group.

close

References

Biesecker LG, Bailey‐Wilson JE, Ballantyne J et al. (2005) Epidemiology. DNA identifications after the 9/11 World Trade Center attack. Science 310(5751): 1122–1123.

Budowle B, Masibay A, Anderson SJ et al. (2001) STR primer concordance study. Forensic Science International 124(1): 47–54.

Budowle B, Bieber FR and Eisenberg AJ (2005) Forensic aspects of mass disasters: strategic considerations for DNA‐based human identification. Legal Medicine 7(4): 230–243.

Budowle B and van Daal A (2008) Forensically relevant SNP classes. Biotechniques 44(5): 603–608.

Caputo M, Bosio LA and Corach D (2011) Long‐term room temperature preservation of corpse soft tissue: an approach for tissue sample storage. Investigative Genetics 2(17): 1–6.

Cemper‐Kiesslich J, Tutsch‐Bauer E and Neuhuber F (2013) Another phantom from the morgue – a case of instrument‐born sample contamination in the course of identifying an unknown deceased. Forensic Science International: Genetics 7(3): 405–407.

Egeland T, Mostad P, Mevåg B and Stenersen M (2000) Beyond traditional paternity and identification cases. Selecting the most probable pedigree. Forensic Science International 110(1): 47–59.

Fondevila M, Phillips C, Naveran N et al. (2008) Case report: identification of skeletal remains using short‐amplicon marker analysis of severely degraded DNA extracted from a decomposed and charred femur. Forensic Science International Genetics 2(3): 212–218.

Ge J, Budowle B and Chakraborty R (2011) Choosing relatives for DNA identification of missing persons. Journal of Forensic Science 56(suppl. 1): S23–S28. doi:10.1111/j.1556‐4029.2010.01631.x.

Hansson SO and Björkman B (2006) Bioethics in Sweden. Cambridge Quarterly of Healthcare Ethics 15(3): 285–293.

Hill CR, Kline MC, Duewer DL and Butler JM (2011) Concordance testing comparing STR multiplex kits with a standard data set. Forensic Science International; Genetics Supplement Series 3: e188–e189.

Interpol (2009) Disaster Victim Identification Guide. http://www.interpol.int/Public/DisasterVictim/Guide/Guide.pdf

Interpol Tsunami Evaluation Working Group (2008) The DVI Response to the South East Asian Tsunami Between December 2004 and February 2006. http://www.interpol.int

Kling D, Welander J, Tillmar A et al. (2012) DNA microarray as a tool in establishing genetic relatedness, current status and future prospects. Forensic Science International Genetics 6(3): 322–329.

Kracun SK, Curić G, Birus I, Dzijan S and Lauc G (2007) Population substructure can significantly affect reliability of a DNA‐led process of identification of mass fatality victims. Journal of Forensic Science 52(4): 874–878.

Lin CY, Huang TY, Shih HC et al. (2011) The strategies to DVI challenges in Typhoon Morakot. International Journal of Legal Medicine 125(5): 637–641.

Liu L, Li Y, Li S et al. (2012) Comparison of next‐generation sequencing systems. Journal of Biomedicine and Biotechnology. doi:10.1155/2012/251364.

Liu QL, Wang JZ, Zhao H et al. (2013) Allele and haplotype diversity of 26 X‐STR Loci in four nationality populations from China. PLoS One 8(6): e65570. doi:10.1371/journal.pone.0065570.

Mardis E (2011) A decade's perspective on DNA sequencing technology. Nature 470: 198–203.

Maxam AM and Gilbert W (1977) A new method for sequencing DNA. Proceedings of the National Academy of Sciences of the USA 74(2): 560–564.

Mikkelsen M, Rockenbauer E, Wächter A et al. (2009) Application of full mitochondrial genome sequencing using 454 GS FLX pyrosequencing. Forensic Science International Genetics Supplementary Series 2: 518–519.

Milos A, Selmanovic A, Smajlovic L et al. (2007) Success rates of nuclear short tandem repeat typing from different skeletal remains. Croatian Medical Journal 48(4): 486–493.

Montelius K and Lindblom B (2012) DNA analysis in disaster victim identification. Forensic Science Medicine and Pathology 8(2): 140–147.

Mundorff AZ, Bartelink EJ and Mar‐Cash E (2009) DNA preservation in skeletal elements from the World Trade Center disaster: recommendations for mass fatality management. Journal of Forensic Science 54(4): 739–745.

Palo JU, Hedman M, Söderholm N and Sajantila A (2007) Repatriation and identification of the Finnish World War II soldiers. Croatian Medical Journal 48(4): 528–535.

Parson W, Strobl C, Huber G et al. (2013) Evaluation of next generation mtGenome sequencing using the Ion Torrent Personal Genome Machine (PGM). Forensic Science International Genetics 7(5): 543–549.

Planz JV, Sannes‐Lowery KA, Duncan DD et al. (2012) Automated analysis of sequence polymorphism in STR alleles by PCR and direct electrospray ionization mass spectrometry. Forensic Science International Genetics 6(5): 594–606.

Prinz M, Carracedo A, Mayr WR et al. (2007) DNA Commission of the International Society for Forensic Genetics (ISFG): recommendations regarding the role of forensic genetics for disaster victim identification (DVI). Forensic Science International Genetics 1: 3–12.

Rockenbauer E, Hansenb S, Mikkelsen M, Børstinga C and Morling N (2014) Characterization of mutations and sequence variants in the D21S11 locus by next generation sequencing. Forensic Science International: Genetics 8(1): 68–72.

Sanger F, Nicklen S and Coulson AR (1977) DNA sequencing with chain‐terminating inhibitors. Proceedings of the National Academy of Sciences of the USA 74(12): 5463–5467.

Seo SB, King JL, Warshauer DH and Budowle B (2013) Single nucleotide polymorphism typing with massively parallel sequencing for human identification. International Journal of Legal Medicine 127(6): 1079–1086.

Shendure J and Hanlee J (2008) Next‐generation DNA sequencing. Nature Biotechnology 26: 1135–1145.

Stangegaard M, Borsting C, Ferrero‐Miliani L et al. (2013) Evaluation of four automated protocols for extraction from FTA‐cards. Journal of Laboratory Automation 18(5): 404–410.

Tozzo P, Pegoraro R and Caenazzo L (2010) Biobanks for non‐clinical purposes and the new law on forensic biobanks: does the Italian context protects the rights of minors? Journal of Medical Ethics 36(12): 775–778.

Walsh PS, Erlich HA and Hiquchi R (1992) Preferential PCR amplification of alleles: mechanisms and solutions. Genome Research 1: 241–250.

Warshauer D, Lin D, Hari K et al. (2013) STRait Razor: a length‐based forensic STR allele‐calling tool for use with second generation sequencing data. Forensic Science International Genetics 7(4): 409–417.

Westen AA, Gerretsen RR and Maat GJ (2008) Femur, rib, and tooth sample collection for DNA analysis in disaster victim identification (DVI): a method to minimize contamination risk. Forensic Science Medicine and Pathology 4(1): 15–21.

Winskog C, Nilsson H, Montelius K and Lindblom B (2010) The use of commercial alcohol products to sterilize bones prior to DNA sampling. Forensic Science Medicine and Pathology 6(2): 127–129.

Wright S (1943) Isolation by distance. Genetics 28(2): 114–138.

Further Reading

Alvarez‐Cubero MJ, Saiz M, Martinez‐Gonzalez LJ et al. (2012) Genetic identification of missing persons: DNA analysis of human remains and compromised samples. Pathobiology 79(5): 228–238. doi:10.1159/000334982.

Buckleton J, Triggs CM and Walsh SJ (2005) Forensic DNA Evidence Interpretation, 1st edn. Boca Raton, FL: CRC Press.

Budowle B, Ge J, Chakraborty R and Gill‐King H (2011) Use of prior odds for missing persons identifications. Investigative Genetics 2(1): 15. doi:10.1186/2041‐2223‐2‐15.

Butler J (2005) Forensic DNA Typing, 2nd edn. Oxford, UK: Elsevier Academic Press.

Drabék J (2009) Validation of software for calculating the likelihood ratio for parentage and kinship. Forensic Science International Genetics 3: 112–118.

Zietkiewicz E, Witt M, Daca P et al. (2012) Current genetic methodologies in the identification of disaster victims and in forensic analysis. Journal of Applied Genetics 53: 41–60.

Weblinks

National Institute of Public Health, Norway. http://www.familias.no

National Institute of Standards and Technology. http://www.cstl.nist.gov/strbase/

Plass Data Software A/S. http://www.plass.dk

Interpol, Disaster Victim Identification. http://www.interpol.int/Public/DisasterVictim/Guide/Guide.pdf

Interpol Tsunami Evaluation Working Group, The DVI response to the South East Asian Tsunami Between December 2004 and February 2006 http://www.interpol.int

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Montelius, Kerstin, Stenersen, Marguerethe, and Sajantila, Antti(Jul 2014) Genetic Profiling in Disaster Victim Identification. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0024394]